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Article

Myelin protein zero gene dose dependent axonal ion-channel dysfunction in a family with Charcot-Marie-Tooth disease.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology - 1 Oct 2020

Moldovan Mihai, Pisciotta Chiara, Pareyson Davide, Krarup Christian

Abstract excerpt

OBJECTIVE: The myelin impairment in demyelinating Charcot-Marie-Tooth (CMT) disease leads to various degrees of axonal degeneration, the ultimate cause of disability. We aimed to assess the pathophysiological changes in axonal function related to the neuropathy severity in hypo-/demyelinating CMT patients associated with myelin protein zero gene (MPZ) deficiency. METHODS: We investigated four family members (two...

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Identifiers

PMID: 32829291
DOI: 10.1016/j.clinph.2020.06.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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